Canonical Allele Identifier: CA350449706
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728695A>C , CM000664.2:g.214728695A>C GRCh38
NC_000002.11:g.215593419A>C , CM000664.1:g.215593419A>C GRCh37
NC_000002.10:g.215301664A>C NCBI36
NG_012047.2:g.86010T>G
NG_012047.3:g.86017T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2315T>G MANE Select ENSP00000260947.4:p.Leu772Trp
ENST00000421162.2:c.962T>G ENSP00000392245.2:p.Leu321Trp
ENST00000613192.2:c.*378T>G ENSP00000483275.2:n.*378T>G
ENST00000613374.5:c.905T>G ENSP00000484464.1:p.Leu302Trp
ENST00000613706.5:c.1907T>G ENSP00000484976.2:p.Leu636Trp
ENST00000617164.5:c.2258T>G ENSP00000480470.1:p.Leu753Trp
ENST00000619009.5:c.776T>G ENSP00000482293.1:p.Leu259Trp
ENST00000650978.1:c.3690T>G
ENST00000260947.8:c.2315T>G ENSP00000260947.4:p.Leu772Trp
ENST00000432456.5:c.458T>G
ENST00000471590.5:n.650T>G
ENST00000613192.1:c.485T>G ENSP00000483275.1:p.Leu162Trp
ENST00000613374.4:c.905T>G ENSP00000484464.1:p.Leu302Trp
ENST00000613706.4:c.962T>G ENSP00000484976.1:p.Leu321Trp
ENST00000617164.4:c.2258T>G ENSP00000480470.1:p.Leu753Trp
ENST00000619009.4:c.776T>G ENSP00000482293.1:p.Leu259Trp
ENST00000620057.4:c.*981T>G ENSP00000481988.1:n.*981T>G
NM_000465.3:c.2315T>G NP_000456.2:p.Leu772Trp
NM_001282543.1:c.2258T>G NP_001269472.1:p.Leu753Trp
NM_001282545.1:c.962T>G NP_001269474.1:p.Leu321Trp
NM_001282548.1:c.905T>G NP_001269477.1:p.Leu302Trp
NM_001282549.1:c.776T>G NP_001269478.1:p.Leu259Trp
NR_104212.1:n.2308T>G
NR_104215.1:n.2251T>G
NR_104216.1:n.1507T>G
XM_011511567.1:c.2261T>G XP_011509869.1:p.Leu754Trp
XM_017004613.1:c.2414T>G XP_016860102.1:p.Leu805Trp
XR_002959322.1:n.2681T>G
NM_000465.4:c.2315T>G MANE Select NP_000456.2:p.Leu772Trp
NM_001282543.2:c.2258T>G NP_001269472.1:p.Leu753Trp
NM_001282545.2:c.962T>G NP_001269474.1:p.Leu321Trp
NM_001282548.2:c.905T>G NP_001269477.1:p.Leu302Trp
NM_001282549.2:c.776T>G NP_001269478.1:p.Leu259Trp
NR_104212.2:n.2280T>G
NR_104215.2:n.2223T>G
NR_104216.2:n.1479T>G